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Volumn 101, Issue 7, 2010, Pages 637-640

New mutation in the Birt Hogg Dube gene;Nueva mutación en el síndrome de Birt Hogg Dubé

Author keywords

Acrochordon; Birt Hogg Dube syndrome; Fibrofolliculoma; Mutation

Indexed keywords

ADULT; ARTICLE; BIRT HOGG DUBE SYNDROME; CASE REPORT; EXON; FAMILY HISTORY; FEMALE; GENE MUTATION; HAMARTOMA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KIDNEY TUMOR; LUNG CYST; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PAPULE; SKIN BIOPSY; SPONTANEOUS PNEUMOTHORAX;

EID: 77956858180     PISSN: 00017310     EISSN: 15782190     Source Type: Journal    
DOI: 10.1016/S1578-2190(10)70686-7     Document Type: Article
Times cited : (8)

References (14)
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    • Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome
    • M.L. Nickerson, M.B. Warren, J.R. Toro, V. Matrosova, G. Glenn, and M.L. Turner Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome Cancer Cell 2 2002 157 164
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    • Nickerson, M.L.1    Warren, M.B.2    Toro, J.R.3    Matrosova, V.4    Glenn, G.5    Turner, M.L.6
  • 3
    • 0032808944 scopus 로고    scopus 로고
    • Acrochordons are not a component of the Birt-Hogg-Dub syndrome - Does this syndrome exist? Case reports and review of the literature
    • C. De la Torre, C. Ocampo, I.G. Doval, A. Losada, and M.J. Cruces Acrochordons are not a component of the Birt-Hogg-Dub syndrome - does this syndrome exist? Case reports and review of the literature. Am J Dermatol 21 1999 369 374
    • (1999) Am J Dermatol , vol.21 , pp. 369-374
    • De La Torre, C.1    Ocampo, C.2    Doval, I.G.3    Losada, A.4    Cruces, M.J.5
  • 6
    • 0022895363 scopus 로고
    • Fibromes prifolliculaires, polypose colique familiale, pneumothorax spontans familiaux
    • O. Binet, J. Robin, M. Vicart, G. Ventura, and E. Beltzer-Garelly Fibromes prifolliculaires, polypose colique familiale, pneumothorax spontans familiaux Ann Dermatol Venereol 113 1986 928 930
    • (1986) Ann Dermatol Venereol , vol.113 , pp. 928-930
    • Binet, O.1    Robin, J.2    Vicart, M.3    Ventura, G.4    Beltzer-Garelly, E.5
  • 7
    • 0032942317 scopus 로고    scopus 로고
    • Birt-Hogg-Dub-syndrome and Hornstein-Knickenberg-syndrome are the same. Different sectioning technique as the cause of different histology
    • T. Schulz, and W. Hartschuh Birt-Hogg-Dub-syndrome and Hornstein-Knickenberg-syndrome are the same. Different sectioning technique as the cause of different histology J Cutan Pathol 26 1999 55 61
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    • Schulz, T.1    Hartschuh, W.2
  • 8
    • 0034821623 scopus 로고    scopus 로고
    • Birt Hogg Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
    • L.S. Schmidt, M.B. Warren, M.L. Nickerson, G. Weirich, V. Matrosova, and J.R. Toro Birt Hogg Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2 Am J Hum Genet 69 2001 876 882
    • (2001) Am J Hum Genet , vol.69 , pp. 876-882
    • Schmidt, L.S.1    Warren, M.B.2    Nickerson, M.L.3    Weirich, G.4    Matrosova, V.5    Toro, J.R.6
  • 10
    • 33750293584 scopus 로고    scopus 로고
    • Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1 and AMPk, and is involved in AMPK and mTOR signalling
    • M. Baba, S.B. Hong, N. Sharma, M.B. Warren, M.L. Nickerson, and A. Iwamatsu Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1 and AMPk, and is involved in AMPK and mTOR signalling Proc Natl Acad Sci USA 103 2006 15552 15557
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 15552-15557
    • Baba, M.1    Hong, S.B.2    Sharma, N.3    Warren, M.B.4    Nickerson, M.L.5    Iwamatsu, A.6
  • 11
    • 45249103326 scopus 로고    scopus 로고
    • BHD mutations, clinical and molecular genetic investigations of BirtHoggDube' syndrome: A new series of 50 families and a review of published reports
    • J.R. Toro, M.-H. Wei, G.M. Glenn, M. Weinreich, O. Toure, and C. Vocke BHD mutations, clinical and molecular genetic investigations of BirtHoggDube′ syndrome: a new series of 50 families and a review of published reports J Med Genet 45 2008 321 331
    • (2008) J Med Genet , vol.45 , pp. 321-331
    • Toro, J.R.1    Wei, M.-H.2    Glenn, G.M.3    Weinreich, M.4    Toure, O.5    Vocke, C.6
  • 12
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    • Birt-Hogg-Dub syndrome: Diagnosis and management
    • Nordenskjld M, Hansen TV, Solly J, Maher ER; European BHD Consortium
    • F.H. Menko, M.A. van Steensel, S. Giraud, L. Friis-Hansen, S. Richard, and S. Ungari Nordenskjld M, Hansen TV, Solly J, Maher ER; European BHD Consortium. Birt-Hogg-Dub syndrome: diagnosis and management. Lancet Oncol 10 2009 1199 1206
    • (2009) Lancet Oncol , vol.10 , pp. 1199-1206
    • Menko, F.H.1    Van Steensel, M.A.2    Giraud, S.3    Friis-Hansen, L.4    Richard, S.5    Ungari, S.6
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    • Birt-Hogg-Dube Syndrome: An autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis
    • N.M. Lindor, J. Hand, P.A. Burch, and L.E. Gibson Birt-Hogg-Dube Syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis Int J Dermatol 40 2001 653 656
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.